Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update.

Journal article

Children with constitutional trisomy 21 (Down syndrome (DS)) have a unique predisposition to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is preceded by a transient neonatal preleukaemic syndrome, transient abnormal myelopoiesis (TAM). TAM and ML-DS are caused by co-operation between trisomy 21, which itself perturbs fetal haematopoiesis and acquired mutations in the key haematopoietic transcription factor gene GATA1. These mutations are found in almost one third of DS neonates and are frequently clinically and haematologcially 'silent'. While the majority of cases of TAM undergo spontaneous remission, ∼10 % will progress to ML-DS by acquiring transforming mutations in additional oncogenes. Recent advances in the unique biological, cytogenetic and molecular characteristics of TAM and ML-DS are reviewed here.

Authors: Bhatnagar, N; Nizery, L; Tunstall, O; Vyas, P; Roberts, I

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Springer Verlag
• Journal: Current Hematologic Malignancy Reports
• Publication date: 2016-08-10
• Acceptance date: 2016-01-01
• DOI: 10.1007/s11899-016-0338-x
• EISSN: 1558-822X
• ISSN: 1558-8211
• Pmid: 27510823
• Language: English
• Keywords: Acute leukaemia; Transient abnormal myelopoiesis; Myeloproliferative disorders; Down syndrome